Associated Papers
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Kingma SD et al.
Orphanet Journal of Rare Diseases, 2013
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Hein LK et al.
Journal of Molecular Biology, 2004
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Clarke LA et al.
Human Mutation, 1994
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Clarke LA et al.
Human Molecular Genetics, 1993
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